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neutropenia-monocytopenia-deafness syndrome

Disease Summary
Associated Targets ()

Mondo Description Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections.
Mondo Term and Equivalent IDs
MONDO:0017100:  neutropenia-monocytopenia-deafness syndrome
Orphanet:2690: 
UMLS:CN202458: